Pantothenate Kinase-Associated Neurodegeneration Overview
Learn About Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens over time. Many people with this condition also develop problems with speech (dysarthria), and some develop vision loss. Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, personality changes, and depression.
Mutations in the PANK2 gene cause pantothenate kinase-associated neurodegeneration.
The precise incidence of this condition is unknown. It is estimated to affect 1 to 3 per million people worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Thomas Klopstock practices in Munich, Germany. Mr. Klopstock and is rated as an Elite expert by MediFind in the treatment of Pantothenate Kinase-Associated Neurodegeneration. His top areas of expertise are Leber Hereditary Optic Neuropathy (LHON), Optic Nerve Atrophy, Pantothenate Kinase-Associated Neurodegeneration, and Hallervorden-Spatz Disease.
Peter Stoeter practices in Dominican Republic. Mr. Stoeter and is rated as an Elite expert by MediFind in the treatment of Pantothenate Kinase-Associated Neurodegeneration. His top areas of expertise are Pantothenate Kinase-Associated Neurodegeneration, Hallervorden-Spatz Disease, Drug Induced Dyskinesia, Movement Disorders, and Gamma Knife Radiosurgery.
Penelope Hogarth is a Neurologist in Portland, Oregon. Dr. Hogarth and is rated as an Elite provider by MediFind in the treatment of Pantothenate Kinase-Associated Neurodegeneration. Her top areas of expertise are Pantothenate Kinase-Associated Neurodegeneration, Hallervorden-Spatz Disease, Beta-Propeller Protein-Associated Neurodegeneration, Movement Disorders, and Deep Brain Stimulation. Dr. Hogarth is currently accepting new patients.
Summary: TIRCON-reg aims to * continue the provision of a global registry and natural history study for NBIA disorders * harmonize and cover existing national and single site registries * enable participation of countries and single sites that so far have no access to an NBIA registry * join forces in order to recruit sufficient numbers of patients * define the natural history of NBIA disorders * define th...
Published Date: June 29, 2021
Published By: National Institutes of Health